Smallest state has biggest World Rare Disease Day observance

Posted
Thursday, February 28, 2013 1:00 pm

Laura Damon

It’s rare that Rhode Island leads the rest of the country except in things where being last is preferable.

But this Thursday the state will gain the distinction of conducting the country’s largest celebration of World Rare Disease Day when 500 people are expected to gather at the Crowne Plaza in Warwick for an event starting at 6 p.m. and running to 10 p.m.

And while rare diseases are rare, it’s not that rare for people to have a rare disease.

According to Patty Weltin, founder of the Rhode Island Rare Disease Foundation (RIRDF) and coordinator of Thursday’s event, one in 10 Americans has a rare disease. Based on that, Weltin estimates about 100,000 Rhode Islanders have rare diseases.

A disease is considered rare if it affects fewer than 200,000 people, according to the RIRDF fact sheet. There are 7,000 rare diseases. Only 5 percent of all rare diseases have a treatment, but there are no cures. Ms. Weltin says the RIRDF is the only non-profit non-disease specific foundation in the country, and Thursday’s event “is probably going to be the biggest in the world.” She estimates that at least 500 people will attend.

“We’re going to party, we’re making some noise,” said Weltin. “We’re here to get noticed, not to bore people to death.”

There will be food, a magician, DJ Richie Rich, and speakers who will share their stories about coping with their rare diseases. Congressman David Cicilline and Congressman James Langevin are also sending video clips for screening at the event.

This will be the RIRDF’s second World Rare Disease Day event in Rhode Island. One hundred and fifty people attended last year. Weltin says the turnout would have been 300 had there not been a snowstorm.

“We have other fundraisers throughout the year but this event’s the biggest deal,” said Weltin.

“World Rare Disease Day has only been around for about five years,” said Weltin, “and if you’re not associated with rare diseases, you don’t know that, but we’re trying to change that state by state.”

The smallest state having the biggest celebration is a fact Weltin takes pride in.

Her daughter Olivia, who’s also speaking at the event, was diagnosed with a rare disease when she was 3 years old.

“I was being completely dismissed,” Weltin said of her initial experience in seeking to get her daughter diagnosed. But she persisted. “I just kept pushing until I got the right diagnosis.”

She said people who have relatives with rare diseases become very Internet-savvy and may end up knowing more than doctors. In terms of thorough diagnoses, Weltin said Dr. Petra M. Klinge of Hasbro is the best in Rhode Island, “this woman tests every nerve.”

Weltin praises the support from local government officials. She considers Senator Sheldon Whitehouse, who sponsored the EXPERTT Act, a great supporter of the rare disease community. The EXPERTT Act (Expanding and Promoting Expertise in Rare Treatments Act of 2012) is a bill to strengthen the ability of the FDA to seek advice from external experts regarding rare diseases and the unmet medical needs of individuals with rare diseases. In a video clip shown at last year’s event, Senator Jack Reed reported that legislatively it was a good year for people with rare diseases.

Pfizer and Alexion are sponsoring the event, and Alexion representatives will be present as well. Alexion Pharmaceutical Inc. is a global biopharmaceutical company focused on developing life-transforming therapies for patients with severe and life-threatening diseases that are also ultra-rare and have no effective treatment options.

Derek Adams, plant manager of Alexion’s plant in Smithfield, called last year’s event “a compelling event that brought together a lot of motivated and interested parties.”

Despite the relatively small number of people who are afflicted with rare diseases, Adams said the mortality rate is high due to the lack of treatment options for many rare diseases.

In 2007, Soliris, which is manufactured by Alexion, was approved for the treatment of Paroxysmal Nocturnal Hemoglobinuria (pnh), a rare disease in which red blood cells break down earlier than normal. In 2011, the same drug was also approved for the treatment of atypical Hemolytic Uremic Syndrome (aHUS), a genetic disorder that also affects red blood cells. Currently, Alexion is developing five innovative therapeutics, which are being investigated in nine severe and life-threatening ultra-rare disorders.

Weltin says that following Thursday’s event, “the first thing I’m doing is going after schools.”

She already started at the middle school level.

“I’m floored by what Bay View has done,” said Weltin, “they’re doing an amazing job of raising awareness for us.”

In January, a class of 40 7th grade students did PowerPoint presentations about rare diseases. The school also had a dress down day and a “pass the bucket” at a basketball game. Weltin said she’s trying to get the kids to attend Thursday’s event.

“These kids are the doctors and the researchers and the parents of the future,” said Weltin.

Leanna Scaglione, who was training to be a professional ballerina when she was diagnosed with Neurofibromatosis type 2, which affected her mobility due to a tumor and ended her training, will be speaking at the observance. Her disease is actually more common than Cystic Fibrosis and Muscular Dystrophy combined.

“Any pain of any sort of any disease is really sad because we have so many other things in life we have to deal with,” said Scaglione. She thinks it’s important to spread the message that people don’t have to let their diseases define them. Scaglione took dance classes all four years at Endicott College and participated in the dance ensemble. She says she’s better now than she was before surgery.

Emily Hawkins, another scheduled speaker, said, “I’m just going to tell my story, everything I couldn’t be.” Like Scaglione, Hawkins points out that though there are restrictions with rare diseases, loopholes can be found.

“You can still be able, you can always find ways around it,” said Hawkins. Hawkins has a condition in which the center, or “macular,” part of her vision is gone, but she’s a photographer. She started Moments Exposed Photography with her boyfriend.

Scaglione says donations for the rare disease community are greatly appreciated, and are accepted by Northeast in Burlington, Mass., or the Children’s Tumor Foundation.

The Abundant Hope Rare Disease Day Event will be held from 6 to 10 p.m. Tickets are $5 and children under 12 are free. Tickets can be purchased at rirdf.org/events.